Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ1
Variant:p.R347*
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KCNJ1

NM_153766.3:p.R347*

Associated Papers

A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5.

Okamoto T et al.

European Journal of Pediatrics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."